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Year Number of Results
1970 1
1972 1
1974 1
1977 1
1978 1
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1997 1
2001 1
2002 1
2007 1
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Page 1
Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.
Sakuma I, Nagano H, Hashimoto N, Fujimoto M, Nakayama A, Fuchigami T, Taki Y, Matsuda T, Akamine H, Kono S, Kono T, Yokoyama M, Nishimura M, Yokote K, Ogasawara T, Fujii Y, Ogawa S, Lee E, Miki T, Tanaka T. Sakuma I, et al. Commun Biol. 2023 Jul 28;6(1):787. doi: 10.1038/s42003-023-05160-y. Commun Biol. 2023. PMID: 37507476 Free PMC article.
Fructose-1,6-bisphosphatase (FBPase) deficiency, caused by an FBP1 mutation, is an autosomal recessive disorder characterized by hypoglycemic lactic acidosis. ...
Fructose-1,6-bisphosphatase (FBPase) deficiency, caused by an FBP1 mutation, is an autosomal recessive disorder characterized by hypo …
Management and emergency treatments of neonates with a suspicion of inborn errors of metabolism.
Ogier de Baulny H. Ogier de Baulny H. Semin Neonatol. 2002 Feb;7(1):17-26. doi: 10.1053/siny.2001.0084. Semin Neonatol. 2002. PMID: 12069535 Review.
During the neonatal period, inborn errors of metabolism mostly present with an overwhelming illness that requires prompt diagnosis and both supportive and specific treatments. ...Glycogen storage diseases and gluconeogenesis defects are easily treated with a …
During the neonatal period, inborn errors of metabolism mostly present with an overwhelming illness that requires promp …
Improving patient tolerability in immunoglobulin treatment: focus on stabilizer effects.
Sun A, Teschner W, Yel L. Sun A, et al. Expert Rev Clin Immunol. 2013 Jun;9(6):577-87. doi: 10.1586/eci.13.39. Expert Rev Clin Immunol. 2013. PMID: 23730887 Review.
Details of patient considerations with respect to excipient content are outlined focusing on patients with renal insufficiency, diabetes, corn allergy, hereditary fructose intolerance, inborn errors of proline metabolism, DiGeorge Syndrome and neuropsy …
Details of patient considerations with respect to excipient content are outlined focusing on patients with renal insufficiency, diabetes, co …
Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).
Brauer N, Maruta Y, Lisci M, Strege K, Oschlies I, Nakamura H, Böhm S, Lehmberg K, Brandhoff L, Ehl S, Parvaneh N, Klapper W, Fukuda M, Griffiths GM, Hennies HC, Niehues T, Ammann S. Brauer N, et al. Front Immunol. 2023 Jun 14;14:1151166. doi: 10.3389/fimmu.2023.1151166. eCollection 2023. Front Immunol. 2023. PMID: 37388727 Free PMC article.
INTRODUCTION: Inborn errors of immunity (IEI) are characterized by a dysfunction of the immune system leading to increased susceptibility to infections, impaired immune regulation and cancer. ...Exome sequencing identified homozygous variants in RAB27A, FBP1 (Fru …
INTRODUCTION: Inborn errors of immunity (IEI) are characterized by a dysfunction of the immune system leading to increased sus …
Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry.
Kuhara T. Kuhara T. J Chromatogr B Biomed Sci Appl. 2001 Jul 5;758(1):3-25. doi: 10.1016/s0378-4347(01)00138-4. J Chromatogr B Biomed Sci Appl. 2001. PMID: 11482733 Review.
The metabolic profiles of patients with ornithine carbamoyl transferase deficiency, fructose-1,6-bisphosphatase deficiency or succinic semialdehyde dehydrogenase deficiency obtained by this method are presented as examples. ...Evaluation of the effects of liver transplanta …
The metabolic profiles of patients with ornithine carbamoyl transferase deficiency, fructose-1,6-bisphosphatase deficiency or succini …
The malabsorption of commonly occurring mono and disaccharides: levels of investigation and differential diagnoses.
Raithel M, Weidenhiller M, Hagel AF, Hetterich U, Neurath MF, Konturek PC. Raithel M, et al. Dtsch Arztebl Int. 2013 Nov 15;110(46):775-82. doi: 10.3238/arztebl.2013.0775. Dtsch Arztebl Int. 2013. PMID: 24300825 Free PMC article. Review.
RESULTS: Carbohydrate intolerance can be the result of a rare, systemic metabolic defect (e.g., fructose intolerance, with a prevalence of 1 in 25,000 persons) or of gastrointestinal carbohydrate malabsorption. ...This condition is caused either by deficient digestion of l …
RESULTS: Carbohydrate intolerance can be the result of a rare, systemic metabolic defect (e.g., fructose intolerance, with a prevalen …
Nutritional considerations and management of the child with liver disease.
Novy MA, Schwarz KB. Novy MA, et al. Nutrition. 1997 Mar;13(3):177-84. doi: 10.1016/s0899-9007(97)00045-2. Nutrition. 1997. PMID: 9131675 Free article. Review.
However, anicteric cirrhotic liver disease also presents nutritional challenges because of hypermetabolism, enteropathy, and increased protein oxidation. Certain inborn errors of metabolism that result in liver disease (including galactosemia, hepatorenal tyr …
However, anicteric cirrhotic liver disease also presents nutritional challenges because of hypermetabolism, enteropathy, and increased prote …
Dietary treatment of inborn errors of metabolism.
Holtzman NA. Holtzman NA. Annu Rev Med. 1970;21:335-56. doi: 10.1146/annurev.me.21.020170.002003. Annu Rev Med. 1970. PMID: 4193735 Review. No abstract available.
Recent advances in the pathogenesis of hereditary fructose intolerance: implications for its treatment and the understanding of fructose-induced non-alcoholic fatty liver disease.
Buziau AM, Schalkwijk CG, Stehouwer CDA, Tolan DR, Brouwers MCGJ. Buziau AM, et al. Cell Mol Life Sci. 2020 May;77(9):1709-1719. doi: 10.1007/s00018-019-03348-2. Epub 2019 Nov 12. Cell Mol Life Sci. 2020. PMID: 31713637 Free PMC article. Review.
Hereditary fructose intolerance (HFI) is a rare inborn disease characterized by a deficiency in aldolase B, which catalyzes the cleavage of fructose 1,6-bisphosphate and fructose 1-phosphate (Fru 1P) to triose molecules. ...Both aldolase B-deficient mi …
Hereditary fructose intolerance (HFI) is a rare inborn disease characterized by a deficiency in aldolase B, which catalyzes th …
22 results